Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
595
Gene name Gene Name - the full gene name approved by the HGNC.
Cyclin D1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CCND1
Synonyms (NCBI Gene) Gene synonyms aliases
BCL1, D11S287E, PRAD1, U21B31
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhi
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs9344 G>A Risk-factor Synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001225 hsa-miR-16-5p Western blot 18483394
MIRT001227 hsa-miR-15a-5p qRT-PCR, Luciferase reporter assay, Western blot 19591824
MIRT001227 hsa-miR-15a-5p qRT-PCR, Luciferase reporter assay, Western blot 19591824
MIRT001225 hsa-miR-16-5p qRT-PCR, Luciferase reporter assay, Western blot 19591824
MIRT001225 hsa-miR-16-5p qRT-PCR, Luciferase reporter assay, Western blot 19591824
Transcription factors
Transcription factor Regulation Reference
AHR Unknown 24380854
ATF2 Activation 10464245;10915780
BHLHE41 Repression 18223678
BRCA1 Unknown 12032322
BTG2 Repression 15870875;16849553
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle IBA
GO:0000082 Process G1/S transition of mitotic cell cycle IDA 8114739, 19237565
GO:0000082 Process G1/S transition of mitotic cell cycle IDA 19412162, 33854232, 33854235, 33854239
GO:0000082 Process G1/S transition of mitotic cell cycle IEA
GO:0000082 Process G1/S transition of mitotic cell cycle IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
168461 1582 ENSG00000110092
Protein
UniProt ID P24385
Protein name G1/S-specific cyclin-D1 (B-cell lymphoma 1 protein) (BCL-1) (BCL-1 oncogene) (PRAD1 oncogene)
Protein function Regulatory component of the cyclin D1-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition (PubMed:1827756, PubMed:1833066, PubMe
PDB 2W96 , 2W99 , 2W9F , 2W9Z , 5VZU , 6P8E , 6P8F , 6P8G , 6P8H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00134 Cyclin_N 26 153 Cyclin, N-terminal domain Domain
PF02984 Cyclin_C 155 282 Cyclin, C-terminal domain Domain
Sequence
Sequence length 295
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Breast cancer Breast cancer, Breast cancer (early onset) N/A N/A GWAS
Breast Cancer Breast cancer (male), Postmenopausal breast cancer N/A N/A GWAS
Carcinoma Basal cell carcinoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Stimulate 11175636
Achondroplasia Stimulate 19802676
Acquired ichthyosis Associate 36303457
Acrocephalosyndactylia Associate 23726368
Adenocarcinoma Associate 10574260, 15971196, 16163549, 16731604, 19706803, 20062011, 21791690, 26055143, 28581676, 28634225, 28824300, 30170437, 31450922, 31567982
Adenocarcinoma Stimulate 11106243, 26681199, 8711937
Adenocarcinoma Bronchiolo Alveolar Associate 12707032
Adenocarcinoma in Situ Associate 20062011
Adenocarcinoma Mucinous Associate 19448592
Adenocarcinoma of Lung Associate 10574260, 17437044, 18399550, 24907662, 24972691, 25816405, 26676638, 26681199, 27151654, 27402308, 28634225, 29311567, 30066899, 31729835, 33219256
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